Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 60 0.14 1 3.2E-02
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 35 0.14 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 145 0.13 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 63 0.13 1 2.7E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 18 55 0.13 1 3.0E-02
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 31 0.13 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 46 0.13 1 4.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 58 0.13 1 1.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 72 0.13 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 52 0.13 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 58 0.13 1 2.3E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 55 0.13 1 2.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 146 0.13 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 153 0.13 3 9.8E-03
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 38 0.12 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 28 0.12 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 41 0.12 1 4.5E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 48 0.12 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 31 0.12 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 70 0.12 1 1.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 87 0.12 1 1.4E-02
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 31 0.12 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 39 0.12 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 65 0.12 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 52 0.12 0 0